E. Roberts

发表

Large-scale discovery of novel genetic causes of developmental disorders

Tomas W. Fitzgerald, M. Hurles, J. Barrett, 2014, Nature.

2018-1105 CHD 3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Alessandro, G. J. Swaminathan, A. Green, 2019 .

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

G. J. Swaminathan, N. Carter, M. Hurles, 2019, American journal of human genetics.

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

Jay F Rowland, M. Hurles, Soo-Mi Park, 2019, The Lancet.

A further case of confined placental mosaicism for trisomy 2 associated with adverse pregnancy outcome

D. Churchill, E. Roberts, G. S. Davis, 2003, Prenatal diagnosis.

STRUCTURAL CHROMOSOME ANOMALIES IN CONGENITAL DIAPHRAGMATIC HERNIA

M. Kilby, D. Howe, E. Roberts, 1996, Prenatal diagnosis.

Diagnosis of primary cerebral lymphomas: possible value of PCR testing in equivocal cases requiring rebiopsy

H. R. Haynes, K. Kurian, E. Roberts, 2014, British journal of neurosurgery.

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2016, bioRxiv.

Prospective Prenatal Diagnosis of Prader–Willi Syndrome due to Maternal Disomy for Chromosome 15 following Trisomic Zygote Rescue

T. Cole, E. Roberts, E. Davison, 1997, Prenatal diagnosis.

Prenatal diagnosis of trisomy for the distal two‐thirds of the long arm of chromosome 14 (q21→qter)

E. Roberts, I. Young, P. Mckeever, 1990, Prenatal diagnosis.

Prenatal testing for uniparental disomy (UPD)

E. Roberts, E. Davison, K. Healey, 2001, Prenatal diagnosis.

Congenital malformations of the diaphragm: findings of the West Midlands Congenital Anomaly Register 1995 to 2000

M. Kilby, A. Tonks, A. Lander, 2004, Prenatal diagnosis.

Duplication of chromosome 2 in association with ventriculomegaly — a case report

E. Roberts, V. Davison, S. Pretlove, 2001, Prenatal diagnosis.

Maternal cell contamination in chorionic villus samples assessed by direct preparations and three different culture methods

G. Lang, E. Roberts, D. Duckett, 1988, Prenatal diagnosis.

Prenatal diagnosis of mosaicism for partial trisomy 8: a case report including fetal pathology

M. Kilby, C. Platt, E. Roberts, 1999, Prenatal diagnosis.

First‐trimester prenatal diagnosis of a familial subtelomeric translocation

M. Kilby, J. Morton, E. Roberts, 2001, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.